Plasma free fatty acids in mitochondrial fatty acid oxidation defects.
Plasma free fatty acid profiles from patients suffering from various mitochondrial beta-oxidation deficiencies were analyzed by gas chromatography-mass spectrometry. cis-4-Decenoic acid (10:1n-6) in medium-chain acyl-CoA dehydrogenase deficiency and cis-5-tetradecenoic acid (14:1n-9) in very-long-chain and 3-hydroxy-long chain acyl-CoA dehydrogenase deficiencies are characteristic of these diseases. In addition, patients with 3-hydroxy-long chain acyl-CoA dehydrogenase deficiency showed a specific increase of 3-hydroxy-long chain fatty acids. The study of plasma free fatty acids is an easy and useful methodology for the diagnostic approach of some mitochondrial beta-oxidation deficiencies, allowing us to establish a quick differentiation between medium- and long-chain defects.
Martínez
G
G
Institut de Bioquímica Clínica, Corporació Sanitària, Edifici Helios III Cl Mejia Lequerica, Barcelona, Spain.
Jiménez-Sánchez
G
G
Divry
P
P
Vianey-Saban
C
C
Riudor
E
E
Rodés
M
M
Briones
P
P
Ribes
A
A
D042964:Acyl-CoA Dehydrogenase; D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency*; D000293:Adolescent; D000328:Adult; D002331:Carnitine / Q000097:blood / Q000652:urine; D002648:Child; D002675:Child, Preschool; D005227:Fatty Acids / Q000378:metabolism*; D005230:Fatty Acids, Nonesterified / Q000097:blood*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D013058:Mass Spectrometry; D008928:Mitochondria / Q000201:enzymology / Q000378:metabolism*; D010084:Oxidation-Reduction
D005227:Fatty Acids; D005230:Fatty Acids, Nonesterified; D042964:Acyl-CoA Dehydrogenase; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D002331:Carnitine